Canonical Allele Identifier: CA262788278
Gene: PLEK2 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67406411C>T , CM000676.2:g.67406411C>T GRCh38
NC_000014.8:g.67873128C>T , CM000676.1:g.67873128C>T GRCh37
NC_000014.7:g.66942881C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216446.9:c.42+5607G>A (PLEK2) MANE Select ENSP00000216446.4:n.42+5607G>A
ENST00000216446.8:c.42+5607G>A (PLEK2) ENSP00000216446.4:n.42+5607G>A
ENST00000553387.1:c.42+5607G>A (PLEK2) ENSP00000451023.1:n.42+5607G>A
ENST00000557388.1:n.150+5607G>A (PLEK2)
NM_016445.1:c.42+5607G>A (PLEK2) NP_057529.1:n.42+5607G>A
XM_011536644.1:c.42+5607G>A (PLEK2) XP_011534946.1:n.42+5607G>A
NM_016445.2:c.42+5607G>A (PLEK2) NP_057529.1:n.42+5607G>A
XM_017020925.2:c.1313-328784C>T (GPHN) XP_016876414.1:n.1313-328784C>T
NM_016445.3:c.42+5607G>A (PLEK2) MANE Select NP_057529.1:n.42+5607G>A
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